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Table 1 The clinical information of patients carrying pathogenic mutations in PPP3CA

From: Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report

Case Our case Li et al. 2019
Case 6
Cases summarized by
Qian et al. 2018
Age 2.5y 3y 8 m 8.46y (±7.14)
Gender M F 4 M/10F
Mutation c.1283insC c.1283insC multiple variants
Amino acid alteration p.T429NfsX22 p.T429NfsX22 multiple variants
Mutation type Frameshift Frameshift nonsense/frameshift/missense
Inheritance De novo De novo De novo
Onset age 2y 1y1m 14.18 m (±15.46)
EEG Slow background waves, PS, GSW, hypsarrhythmia, spasms hypsarrhythmia, MFD and spasms including MFD, PS, GSW, Hypsarrhythmia, Abnormal background and other abnormal waveforms
MRI Normal Normal Some are normal. Some presented abnormalities including ventricular dilatation, white matter change and small hippocampal.
Others Eczema, speech delay Mild developmental delay, poor speech, and mild hypotonia
  1. *MFD multifocal epileptiform discharges; PS polyspikes; GSW generalized spike and slow waves